T3DB: ATP-binding cassette sub-family C member 9

Name	ATP-binding cassette sub-family C member 9
Synonyms	Sulfonylurea receptor 2 SUR2
Gene Name	ABCC9
Organism	Human
Amino acid sequence	>lcl\|BSEQ0037023\|ATP-binding cassette sub-family C member 9 MSLSFCGNNISSYNINDGVLQNSCFVDALNLVPHVFLLFITFPILFIGWGSQSSKVQIHH NTWLHFPGHNLRWILTFALLFVHVCEIAEGIVSDSRRESRHLHLFMPAVMGFVATTTSIV YYHNIETSNFPKLLLALFLYWVMAFITKTIKLVKYCQSGLDISNLRFCITGMMVILNGLL MAVEINVIRVRRYVFFMNPQKVKPPEDLQDLGVRFLQPFVNLLSKATYWWMNTLIISAHK KPIDLKAIGKLPIAMRAVTNYVCLKDAYEEQKKKVADHPNRTPSIWLAMYRAFGRPILLS STFRYLADLLGFAGPLCISGIVQRVNETQNGTNNTTGISETLSSKEFLENAYVLAVLLFL ALILQRTFLQASYYVTIETGINLRGALLAMIYNKILRLSTSNLSMGEMTLGQINNLVAIE TNQLMWFLFLCPNLWAMPVQIIMGVILLYNLLGSSALVGAAVIVLLAPIQYFIATKLAEA QKSTLDYSTERLKKTNEILKGIKLLKLYAWEHIFCKSVEETRMKELSSLKTFALYTSLSI FMNAAIPIAAVLATFVTHAYASGNNLKPAEAFASLSLFHILVTPLFLLSTVVRFAVKAII SVQKLNEFLLSDEIGDDSWRTGESSLPFESCKKHTGVQPKTINRKQPGRYHLDSYEQSTR RLRPAETEDIAIKVTNGYFSWGSGLATLSNIDIRIPTGQLTMIVGQVGCGKSSLLLAILG EMQTLEGKVHWSNVNESEPSFEATRSRNRYSVAYAAQKPWLLNATVEENITFGSPFNKQR YKAVTDACSLQPDIDLLPFGDQTEIGERGINLSGGQRQRICVARALYQNTNIVFLDDPFS ALDIHLSDHLMQEGILKFLQDDKRTLVLVTHKLQYLTHADWIIAMKDGSVLREGTLKDIQ TKDVELYEHWKTLMNRQDQELEKDMEADQTTLERKTLRRAMYSREAKAQMEDEDEEEEEE EDEDDNMSTVMRLRTKMPWKTCWRYLTSGGFFLLILMIFSKLLKHSVIVAIDYWLATWTS EYSINNTGKADQTYYVAGFSILCGAGIFLCLVTSLTVEWMGLTAAKNLHHNLLNKIILGP IRFFDTTPLGLILNRFSADTNIIDQHIPPTLESLTRSTLLCLSAIGMISYATPVFLVALL PLGVAFYFIQKYFRVASKDLQELDDSTQLPLLCHFSETAEGLTTIRAFRHETRFKQRMLE LTDTNNIAYLFLSAANRWLEVRTDYLGACIVLTASIASISGSSNSGLVGLGLLYALTITN YLNWVVRNLADLEVQMGAVKKVNSFLTMESENYEGTMDPSQVPEHWPQEGEIKIHDLCVR YENNLKPVLKHVKAYIKPGQKVGICGRTGSGKSSLSLAFFRMVDIFDGKIVIDGIDISKL PLHTLRSRLSIILQDPILFSGSIRFNLDPECKCTDDRLWEALEIAQLKNMVKSLPGGLDA VVTEGGENFSVGQRQLFCLARAFVRKSSILIMDEATASIDMATENILQKVVMTAFADRTV VTIAHRVSSIMDAGLVLVFSEGILVECDTVPNLLAHKNGLFSTLVMTNK
Number of residues	1549
Molecular Weight	174221.7
Theoretical pI	7.39
GO Classification	Functions ion channel binding potassium channel regulator activity transporter activity ATP binding potassium channel activity sulfonylurea receptor activity ATPase activity, coupled to transmembrane movement of substances Processes synaptic transmission transmembrane transport potassium ion import defense response to virus signal transduction potassium ion transport Components voltage-gated potassium channel complex sarcolemma ATP-sensitive potassium channel complex sarcomere plasma membrane
General Function	Transporter activity
Specific Function	Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.
Pfam Domain Function	ABC_tran (PF00005 ) ABC_membrane (PF00664 )
Transmembrane Regions	31-51 73-93 102-122 133-153 168-188 302-322 351-371 424-444 456-476 532-552 572-592 991-1011 1035-1055 1128-1148 1246-1266
GenBank Protein ID	3127176
UniProtKB ID	O60706
UniProtKB Entry Name	ABCC9_HUMAN
Cellular Location	Membrane
Gene sequence	>lcl\|BSEQ0016101\|ATP-binding cassette sub-family C member 9 (ABCC9) ATGAGCCTTTCATTTTGTGGTAACAACATTTCTTCATATAATATCAACGATGGTGTACTA CAAAATTCCTGCTTTGTGGATGCCCTCAACCTGGTCCCTCATGTCTTTCTGTTGTTTATC ACTTTTCCAATATTGTTTATTGGGTGGGGGAGCCAAAGCTCAAAAGTACAAATTCACCAC AACACATGGCTTCATTTTCCGGGACATAACCTGAGATGGATTCTTACATTCGCTCTCCTG TTTGTGCATGTCTGTGAAATAGCAGAAGGCATTGTTTCAGACTCGCGGCGGGAATCAAGG CACCTCCACCTCTTTATGCCAGCCGTGATGGGATTCGTTGCCACTACAACATCGATAGTG TATTATCATAATATCGAAACATCAAATTTTCCTAAATTACTTTTAGCCCTGTTCCTGTAT TGGGTAATGGCCTTTATTACAAAAACAATAAAATTGGTTAAGTACTGTCAGTCTGGCTTG GACATATCAAACCTGCGTTTCTGCATCACAGGCATGATGGTCATCTTGAATGGGCTCTTG ATGGCTGTGGAGATCAATGTCATTCGAGTCAGGAGATATGTATTTTTCATGAATCCTCAG AAAGTAAAGCCTCCTGAAGACCTCCAGGATCTGGGAGTGAGATTTCTTCAACCATTTGTG AATTTGCTGTCAAAAGCAACATACTGGTGGATGAACACACTTATTATATCTGCTCACAAA AAGCCTATTGATCTGAAGGCAATTGGAAAATTGCCAATAGCAATGAGAGCAGTAACAAAT TATGTTTGCCTGAAAGATGCATATGAAGAACAAAAGAAAAAAGTTGCAGATCATCCAAAT CGGACTCCATCTATATGGCTTGCAATGTACAGAGCTTTTGGGCGACCAATTCTACTTAGT AGCACATTCCGCTATCTGGCTGATTTACTGGGTTTTGCTGGACCTCTTTGTATTTCTGGA ATAGTTCAGCGTGTGAATGAAACCCAGAATGGGACAAATAACACAACTGGAATTTCAGAA ACCCTCTCATCAAAGGAATTTCTTGAAAACGCTTACGTTCTAGCAGTTCTTCTCTTCTTG GCTCTTATTCTGCAAAGGACATTTTTGCAGGCTTCCTACTATGTAACCATAGAGACTGGC ATTAACCTCCGTGGAGCTCTGCTGGCCATGATTTATAATAAAATCCTTAGGCTCTCTACG TCTAACTTATCCATGGGGGAGATGACTCTGGGGCAGATCAACAACTTAGTCGCCATTGAA ACTAATCAACTCATGTGGTTTTTGTTCCTGTGTCCCAATCTATGGGCTATGCCTGTTCAG ATCATAATGGGCGTGATTCTGCTCTATAATTTACTTGGATCAAGTGCATTGGTCGGTGCA GCTGTCATTGTGCTCCTTGCGCCAATTCAGTACTTTATTGCTACAAAGTTGGCAGAGGCT CAGAAAAGTACACTTGATTATTCCACTGAGAGACTCAAGAAAACAAATGAAATATTGAAA GGCATCAAACTTCTAAAATTGTATGCCTGGGAACACATTTTCTGCAAAAGTGTGGAGGAA ACAAGAATGAAAGAACTATCTAGTCTCAAAACCTTTGCACTATATACATCACTCTCCATC TTCATGAATGCAGCAATTCCCATAGCAGCTGTTCTTGCTACATTTGTGACCCATGCGTAT GCCAGTGGAAACAATCTGAAACCTGCAGAGGCCTTTGCTTCACTGTCTCTCTTCCATATC CTGGTCACACCACTGTTCCTGCTCTCCACGGTGGTCAGATTTGCAGTCAAAGCCATCATA AGTGTTCAAAAGCTGAATGAGTTTCTCTTGAGTGATGAGATTGGTGACGACAGTTGGCGA ACTGGTGAAAGTTCGCTTCCTTTTGAGTCCTGTAAGAAGCACACTGGAGTTCAGCCAAAA ACTATAAACAGGAAACAGCCTGGAAGATATCACCTGGACAGCTATGAGCAATCAACACGG CGTCTACGTCCCGCAGAAACAGAGGACATTGCAATAAAGGTCACAAATGGATACTTTTCA TGGGGCAGTGGTTTAGCTACATTATCCAATATAGATATTCGAATTCCAACAGGTCAGTTA ACCATGATTGTGGGCCAAGTAGGATGTGGGAAGTCCTCTCTTCTCCTTGCCATCCTCGGT GAGATGCAGACATTGGAAGGAAAAGTTCACTGGAGCAATGTAAATGAATCTGAGCCTTCT TTTGAAGCAACCAGAAGTAGGAACAGGTACTCTGTGGCATATGCAGCTCAAAAGCCTTGG CTATTAAATGCTACAGTAGAAGAAAATATTACTTTTGGAAGTCCTTTTAACAAACAGAGG TACAAAGCTGTCACAGATGCCTGTTCTCTTCAGCCAGATATTGACTTATTACCATTTGGA GATCAAACTGAAATTGGAGAGAGGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATC TGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGATGATCCATTCTCA GCCCTGGACATTCACTTGAGTGATCATTTAATGCAGGAGGGGATTTTGAAATTCCTGCAA GATGACAAAAGGACACTCGTTCTTGTGACTCACAAATTACAGTATCTGACGCATGCTGAC TGGATCATAGCCATGAAAGATGGAAGTGTCCTAAGAGAAGGAACTTTGAAGGACATTCAA ACCAAAGATGTTGAGCTTTATGAACACTGGAAAACACTTATGAATCGGCAAGATCAAGAA TTAGAAAAGGATATGGAAGCTGACCAAACTACTTTAGAGAGGAAAACTCTCCGACGGGCC ATGTATTCAAGAGAAGCCAAAGCCCAGATGGAGGACGAAGACGAAGAGGAAGAAGAGGAG GAAGATGAGGATGATAACATGTCCACTGTAATGAGGCTCAGGACTAAAATGCCATGGAAA ACCTGCTGGCGCTACCTGACATCTGGAGGATTCTTCCTGCTCATCCTGATGATTTTCTCT AAGCTTTTGAAGCATTCGGTCATTGTAGCTATAGACTATTGGCTGGCCACATGGACATCG GAGTACAGTATAAACAATACTGGAAAAGCTGATCAGACCTACTATGTGGCTGGCTTTAGC ATACTCTGTGGAGCAGGCATTTTCCTTTGCCTTGTTACATCCCTCACTGTAGAATGGATG GGTCTCACAGCTGCCAAAAATCTTCACCACAACCTTCTCAATAAGATAATCCTTGGACCA ATAAGGTTTTTTGATACCACACCCCTGGGACTGATTCTCAATCGCTTTTCAGCTGATACT AATATCATTGATCAGCACATCCCTCCAACCTTGGAATCTCTAACTCGCTCAACACTGCTC TGCCTGTCTGCCATTGGGATGATTTCTTATGCTACTCCTGTGTTCCTGGTTGCTCTCCTG CCCCTTGGTGTTGCCTTTTATTTTATCCAGAAATACTTTCGGGTTGCCTCTAAGGACCTC CAGGAACTTGACGATAGTACCCAGCTCCCTCTGCTCTGTCACTTCTCAGAAACAGCAGAA GGACTCACCACCATTCGGGCCTTTAGGCATGAAACCAGATTTAAACAACGTATGCTGGAA CTGACGGATACAAACAACATTGCCTACTTATTTCTCTCAGCTGCCAACAGATGGCTGGAG GTCAGGACGGATTATCTGGGAGCTTGCATTGTCCTCACTGCATCTATAGCATCCATTAGT GGGTCTTCGAATTCTGGATTGGTAGGCTTGGGTCTTCTGTATGCACTTACGATAACCAAT TATTTGAATTGGGTTGTGAGGAACTTGGCTGACCTGGAGGTCCAGATGGGTGCAGTGAAG AAGGTGAACAGTTTCCTGACTATGGAGTCAGAGAACTATGAAGGCACAATGGATCCTTCT CAAGTTCCAGAACATTGGCCACAAGAAGGGGAGATCAAGATACATGATCTGTGTGTCAGA TATGAAAATAATCTGAAACCTGTTCTTAAGCACGTCAAGGCTTACATCAAACCTGGACAA AAGGTGGGCATATGTGGTCGCACTGGCAGTGGGAAATCATCGTTATCTCTGGCTTTCTTC AGAATGGTTGATATATTTGATGGAAAAATTGTCATTGATGGGATAGACATTTCCAAATTA CCACTGCACACACTACGTTCTAGACTTTCAATCATTCTGCAGGATCCAATACTATTCAGT GGTTCCATTAGATTTAATTTAGATCCAGAGTGCAAATGCACAGATGACAGACTCTGGGAA GCCTTAGAAATTGCTCAGCTGAAGAATATGGTCAAATCTCTACCTGGAGGTCTAGATGCG GTTGTCACTGAAGGTGGGGAGAATTTTAGCGTTGGACAGAGACAGCTATTTTGCCTTGCC AGGGCCTTTGTCCGCAAAAGCAGCATTCTTATTATGGATGAGGCAACAGCTTCCATTGAC ATGGCCACAGAGAATATTTTGCAAAAAGTAGTAATGACAGCCTTTGCAGACCGGACCGTG GTGACAATAGCTCACCGTGTCTCTTCTATTATGGATGCAGGCCTTGTTTTAGTCTTTTCT GAGGGTATTTTAGTGGAGTGTGATACTGTCCCAAATTTGCTCGCCCACAAGAATGGCCTC TTTTCCACTTTGGTGATGACCAACAAGTAG
GenBank Gene ID	AF061323
GeneCard ID	Not Available
GenAtlas ID	ABCC9
HGNC ID	HGNC:60
Chromosome Location	12
Locus	12p12.1
References	Aguilar-Bryan L, Clement JP 4th, Gonzalez G, Kunjilwar K, Babenko A, Bryan J: Toward understanding the assembly and structure of KATP channels. Physiol Rev. 1998 Jan;78(1):227-45. 9457174 Scherer SE, Muzny DM, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Montgomery KT, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Lovering RC, Wheeler DA, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clerc-Blankenburg KP, Davis C, Delgado O, Dinh HH, Draper H, Gonzalez-Garay ML, Havlak P, Jackson LR, Jacob LS, Kelly SH, Li L, Li Z, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Pasternak S, Perez LM, Plopper FJ, Santibanez J, Shen H, Tabor PE, Verduzco D, Waldron L, Wang Q, Williams GA, Zhang J, Zhou J, Allen CC, Amin AG, Anyalebechi V, Bailey M, Barbaria JA, Bimage KE, Bryant NP, Burch PE, Burkett CE, Burrell KL, Calderon E, Cardenas V, Carter K, Casias K, Cavazos I, Cavazos SR, Ceasar H, Chacko J, Chan SN, Chavez D, Christopoulos C, Chu J, Cockrell R, Cox CD, Dang M, Dathorne SR, David R, Davis CM, Davy-Carroll L, Deshazo DR, Donlin JE, D'Souza L, Eaves KA, Egan A, Emery-Cohen AJ, Escotto M, Flagg N, Forbes LD, Gabisi AM, Garza M, Hamilton C, Henderson N, Hernandez O, Hines S, Hogues ME, Huang M, Idlebird DG, Johnson R, Jolivet A, Jones S, Kagan R, King LM, Leal B, Lebow H, Lee S, LeVan JM, Lewis LC, London P, Lorensuhewa LM, Loulseged H, Lovett DA, Lucier A, Lucier RL, Ma J, Madu RC, Mapua P, Martindale AD, Martinez E, Massey E, Mawhiney S, Meador MG, Mendez S, Mercado C, Mercado IC, Merritt CE, Miner ZL, Minja E, Mitchell T, Mohabbat F, Mohabbat K, Montgomery B, Moore N, Morris S, Munidasa M, Ngo RN, Nguyen NB, Nickerson E, Nwaokelemeh OO, Nwokenkwo S, Obregon M, Oguh M, Oragunye N, Oviedo RJ, Parish BJ, Parker DN, Parrish J, Parks KL, Paul HA, Payton BA, Perez A, Perrin W, Pickens A, Primus EL, Pu LL, Puazo M, Quiles MM, Quiroz JB, Rabata D, Reeves K, Ruiz SJ, Shao H, Sisson I, Sonaike T, Sorelle RP, Sutton AE, Svatek AF, Svetz LA, Tamerisa KS, Taylor TR, Teague B, Thomas N, Thorn RD, Trejos ZY, Trevino BK, Ukegbu ON, Urban JB, Vasquez LI, Vera VA, Villasana DM, Wang L, Ward-Moore S, Warren JT, Wei X, White F, Williamson AL, Wleczyk R, Wooden HS, Wooden SH, Yen J, Yoon L, Yoon V, Zorrilla SE, Nelson D, Kucherlapati R, Weinstock G, Gibbs RA: The finished DNA sequence of human chromosome 12. Nature. 2006 Mar 16;440(7082):346-51. 16541075 Babenko AP, Gonzalez G, Aguilar-Bryan L, Bryan J: Reconstituted human cardiac KATP channels: functional identity with the native channels from the sarcolemma of human ventricular cells. Circ Res. 1998 Nov 30;83(11):1132-43. 9831708 Allebrandt KV, Amin N, Muller-Myhsok B, Esko T, Teder-Laving M, Azevedo RV, Hayward C, van Mill J, Vogelzangs N, Green EW, Melville SA, Lichtner P, Wichmann HE, Oostra BA, Janssens AC, Campbell H, Wilson JF, Hicks AA, Pramstaller PP, Dogas Z, Rudan I, Merrow M, Penninx B, Kyriacou CP, Metspalu A, van Duijn CM, Meitinger T, Roenneberg T: A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila. Mol Psychiatry. 2013 Jan;18(1):122-32. doi: 10.1038/mp.2011.142. Epub 2011 Nov 22. 22105623 Bienengraeber M, Olson TM, Selivanov VA, Kathmann EC, O'Cochlain F, Gao F, Karger AB, Ballew JD, Hodgson DM, Zingman LV, Pang YP, Alekseev AE, Terzic A: ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. Nat Genet. 2004 Apr;36(4):382-7. Epub 2004 Mar 21. 15034580 Olson TM, Alekseev AE, Moreau C, Liu XK, Zingman LV, Miki T, Seino S, Asirvatham SJ, Jahangir A, Terzic A: KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. Nat Clin Pract Cardiovasc Med. 2007 Feb;4(2):110-6. 17245405 van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB, Hoischen A: Cantu syndrome is caused by mutations in ABCC9. Am J Hum Genet. 2012 Jun 8;90(6):1094-101. doi: 10.1016/j.ajhg.2012.04.014. Epub 2012 May 17. 22608503 Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E: Dominant missense mutations in ABCC9 cause Cantu syndrome. Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324. 22610116